Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0451641 (
urolithiasis
)
3,973
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Costello syndrome
is characterized by postnatal growth deficiency, mental retardation, curly hair, coarse characteristic face, and loose skin of hands and feet. Patients with this syndrome have a high incidence of cardiac involvement, including arrhythmia, atrial septal defect, and hypertrophic cardiomyopathy. We report a 16-year-old adolescent female with
Costello syndrome
who presents with hypercalciuria and
urolithiasis
.
...
PMID:Hypercalciuria and urolithiasis in a case of Costello syndrome. 1010 Feb 91
